PKDeep
Rigshospitalet
Institutional data
Institution: Rigshospitalet
Country: Denmark
Website: www.rigshospitalet.dk
Department: Danish Center for Hemoglibinopathies, Department of Hematology
Website: www.rigshospitalet.dk/afdelinger-og-organsygdomme/haematologisk-klinik/Sider/default.aspx
Department e-mail: vhs@regionh.dk
Contact persons: Andreas Glenthøj, Jesper Petersen
Department activity: Clinical management, Diagnostic
Type of patients in Follow-up: Pediatrics, Adults
Diagnostic methodologies: Genetics
Department:
Institution's activity
2024
2023
2022
2021
2020
2019
Number of PKD adult patients (≥ 18 years): 18
Number of PKD patients adults with genetic analysis performed: 18
2018
Number of PKD adult patients (≥ 18 years): 18
Number of PKD patients adults with genetic analysis performed: 18
2017
Number of PKD adult patients (≥ 18 years): 18
Number of PKD patients adults with genetic analysis performed: 18
PKD diagnosis: services offered
Perform PK enzyme activity assay: No
Externalize PK activity quantitative assay: Yes
Perform PKLR genetic characterization: Yes
Method used for PKLR genetic characterization: Sanger, NGS
Turn-around-time?: 120 hours
Offer genetic counselling for PKD: Yes
Have prenatal diagnosis for PKD available: Yes